Giant axonal neuropathy

Giant Axonal Neuropathy

Giant Axonal Neuropathy (GAN) /ˈdʒaɪ.ənt æksˈoʊ.nəl nʊˈrɑː.pə.θi/ is a rare, genetic neurodegenerative disorder that results in specific nerve cells' progressive dysfunction. The term derives from the Greek words 'gigas' meaning 'giant', 'axon' referring to the long threadlike part of a nerve cell, and 'neuropathy' meaning disease of the nerves.

Symptoms

The symptoms of Giant Axonal Neuropathy typically appear in early childhood and may include difficulty with balance and coordination (ataxia), muscle weakness, sensory neuropathy, and abnormalities in the peripheral nervous system. In severe cases, individuals may experience seizures and intellectual disability.

Causes

Giant Axonal Neuropathy is caused by mutations in the GAN gene, which provides instructions for producing a protein called gigaxonin. This protein plays a crucial role in maintaining the structure and function of nerve cells. Mutations in the GAN gene disrupt the normal functioning of gigaxonin, leading to the characteristic features of Giant Axonal Neuropathy.

Diagnosis

Diagnosis of Giant Axonal Neuropathy is based on a clinical examination, detailed patient history, and confirmed by genetic testing. Other diagnostic tests may include Electromyography (EMG), nerve conduction studies, and nerve biopsy.

Treatment

There is currently no cure for Giant Axonal Neuropathy. Treatment is symptomatic and supportive, focusing on managing individual symptoms and improving quality of life. This may include physical therapy, occupational therapy, and the use of assistive devices.

Prognosis

The prognosis for individuals with Giant Axonal Neuropathy varies. The disorder is progressive, meaning it tends to worsen over time. Most individuals with GAN become wheelchair-dependent by their teens or early adulthood.

See Also

• Neurodegenerative disorders
• Genetic disorders
• Peripheral nervous system

External links

• Medical encyclopedia article on Giant axonal neuropathy
• Wikipedia's article - Giant axonal neuropathy

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